Marfact #16, quality of life, and thanks!

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #16: There is no cure for Marfan syndrome. However, a range of treatment options can reduce and sometimes prevent complications.

When the words Marfan Syndrome were first mentioned to my parents as something that I could potentially have they carried with them a very bleak and devastating outcome. It was thought that should I have the syndrome I would likely only live long enough to become a young adult at best. Today however, because of the treatment options offered – mainly where our cardiovascular systems are concerned – and the ever-expanding knowledge of connective tissue disorders, our lifespans are now on average the same as those in the general population.

It’s truly amazing how much things can change in the span of 20 years. Length of life isn’t so much of a worry anymore, but with that instead comes the increasing fear of quality of life. Our faulty connective tissue now has far longer to carry us than it ever has before. It’s scary to think about what kind of shape I’ll be in physically or how much more the chronic pain will have increased a year from now, never mind 40 years from now.

But, fears for the future aside, I’m extremely thankful that I live in a time where so much is available to us medically. And, if that much can change in 20 or 30 years who knows what treatment options we’ll have in another decade or two.

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I want to thank the Marfan Foundation for supporting Tissue Tales and sharing it on their Facebook page. I have so much love and appreciation for all that they have done and continue to do for those of us who live with connective tissue disorders and to have their support where this blog is concerned is an enormous honor.

And a ton of thanks to the wonderful Ben for his reblogs of the Marfacts! Please do stop by Ben’s awesome blog and have a read – and a look at his art. You’ll be glad that you did!

Marfact #15, genes, and connective tissue disorders.

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #15: Marfan syndrome is caused by a defect (mutation) in the gene that tells the body how to make fibrillin‐1 ‐‐ a protein that is an important part of connective tissue.

While Marfan Syndrome affects connective tissue through it’s influence on fibrillin, the connective tissue faults found in Ehlers-Danlos Syndrome are instead due to mutations affecting the body’s collagen. Both fibrillin and collagen are very important in the function of our body’s connective tissue.

Also, connective tissue disorder causing genetic mutations have been found and identified on the gene that tells the body how to make fibrillin-2. This ties into what I was saying before about the complexity of our genes and connective tissue and how we’re still in the process of learning so much about both.

When I had my genetic test done they only looked for mutations affecting fibrillin-1. The test is pretty expensive and in my case the cost was only covered for that specific gene (and only after my aortic root started becoming enlarged). That’s one of the reasons that we weren’t overly surprised when the test came back negative.

For now I’m alright not having the test done on any of the other genes but it’s definitely something that may be worth considering more in the future.

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Know the signs; save a life.


Marfact #14 and MFS in my family.

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #14: About 75% of people with Marfan Syndrome inherited it from a parent; in the other cases, it was the result of a “spontaneous mutation”, meaning that it happened randomly.

My family and I always thought that I had gotten my tissue disorder spontaneously and not by inheriting it from a parent; but, as the years go by I often wonder if I may have inherited it from my mom. Throughout her life – especially into adulthood – she’s suffered from a lot of unexplained health and chronic pain issues and some of them – like her sporadic knee dislocations as a teenager – could very well be connective tissue disorder related problems. Because of this possibility and the serious dangers of unchecked heart issues in tissue disorders she did undergo an echo just to be safe – which thankfully came back fine. But, despite her heart and eyes being okay to date, I will always wonder if she has the same disorder as me.

No one else in my family has symptoms suggestive of a tissue disorder, so in any case it seems to have either started with me or my mom. That’s one reason I wish that my genetic test for Marfan Syndrome had come back positive: so that we could’ve then tested my mom for the same  gene mutation, and maybe finally given her some answers as to why she’s had so many health and pain problems. She’s gone more than long enough without getting any and I’d really like that to change. Not that I’d want her to have my disorder, but she’s dealing with chronic pain and health issues regardless and at least then we’d know why. ♥

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Happy Valentines Day everyone. ♥

Much love to you all and thanks for checking in for another Marfact.

– Katie

Marfact #13

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #13: A person with Marfan syndrome has a 50% chance of passing it on to each child. It does not skip generations.

To add to this fact: There are no unaffected “carriers” of the Marfan causing gene mutation, due to the fact that it’s an Autosomal dominant disorder. This means that if a parent has the disorder you will have a 50% chance of either inheriting Marfan Syndrome from them and having the same 50% chance of passing it on to your own future child/ren or you won’t have the disorder and there will be no risk of your child getting it (at least no more risk than in the general population).

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Hopefully all of the above makes sense – I’m not too great at explaining anything genetic on the best of days and right now I’m running on almost no sleep.

Hugs to you all,
Thanks for reading! ♥

– Katie

Marfact #12

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #12: When getting evaluated for Marfan syndrome, the possible outcomes are: a Marfan syndrome diagnosis, emerging Marfan syndrome, another genetic disorder of connective tissue or no specific diagnosis. Regardless of the outcome, medical treatment and follow‐up care for the existing symptoms are critical.

“In My Hands” clip:

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Marfact #11 + My experience with the tissue disorder family.

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #11: Several conditions exist that are related to Marfan Syndrome that cause people to struggle with the same or similar physical problems. Early diagnosis and treatment are key for these disorders too! 

To add to this fact: it’s also not all that uncommon for people with connective tissue disorders to have originally been diagnosed with one disorder only to later have their diagnosis switched to that of another one. For example: you may be diagnosed with Marfan Syndrome initially, but as more symptoms present over time (or more is learned about said disorders) your diagnosis may eventually shift to something like Ehlers-Danlos Syndrome or Loeys-Dietz and vice versa. There are also many people with connective tissue disorders who present with what appears to be a mix of several disorders, or, don’t fit into any of the known or named ones but still clearly do have some kind of connective tissue disorder.

I happen to be one of these people. While I do meet the clinical criteria for a Marfan Syndrome diagnosis, at the same time I have a lot of medical issues related to my disorder that are atypical of MFS and resemble more closely Ehlers-Danlos Syndrome. My genetic test also came back negative for any known MFS causing genetic mutations. Over the years I’ve met with a 50/50 verdict from my doctors; half seem to be pretty sure that I have Marfan Syndrome while the other half think I definitely have a different tissue disorder.

The older I get and the more my disorder presents the more obvious it becomes that I don’t just have Marfan Syndrome, if I have it at all. I have something very similar to it in many ways but it’s not the same. I often wonder if the disorder I have just has yet to be discovered and named. There’s still so much to learn about not only connective tissue disorders but genetics themselves. It hasn’t been all that long since Loeys-Dietz Syndrome and the genetic mutations that cause it were even discovered.

I used to struggle with not knowing for certain what disorder I have. But, it doesn’t bother me so much anymore. For now we just call it Marfan Syndrome and take all of the necessary precautions and undergo all of the preventative screening needed with any tissue disorder. Just knowing for certain that I have a connective tissue disorder after spending so long in unexplained pain, fighting and searching for a diagnosis, while so many doctors were more than happy to tell me there was nothing wrong at all and it was in my head, is more than enough. It’s estimated that 50% of people with Marfan Syndrome don’t know that they have it, and the number’s even higher for people with Ehlers-Danlos Syndrome. That’s another reason why it’s so important to spread the word – it could help give someone who’s been suffering for years without any answers that life changing diagnosis.

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One thing that I’ve learned throughout my journey with my tissue disorder is that diagnosis is not a black and white thing, especially with such complex disorders. Genetics themselves are extremely complicated and connective tissue influences every major part of our bodies in endless ways.

Marfact #10

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #10: Family medical history is an important consideration when seeking a Marfan diagnosis. Even if Marfan syndrome was not diagnosed, look for parents and grandparents who died from an unexplained, heart-related death before the age of 50. 

There’s also a really great, educational documentary about living with Marfan Syndrome called “In My Hands“. The Marfan Foundation has posted some clips of the movie on Youtube and I’d like to share them again with you this year (or for the first time for those of you new to Tissue Tales!). They provide some really accurate insight into the life of someone who has MFS and the different things that we face – medically, emotionally and physically – because of it.

Visit for more information.


Marfacts 7, 8 and 9

Hi everyone, sorry for the late facts. This weekend was pretty miserable pain and sleep-wise so I got a bit behind.

In honor of Marfan Syndrome awareness month, here are some Marfact for the past 3 days (provided by the wonderful Marfan Foundation).

Marfact #7: Marfan syndrome and related disorders affect about 200,000 people in the United States. These disorders are not nearly as rare as we think!

Marfact #8: Marfan syndrome and related disorders affect men and women of all races and ethnicities equally!

Marfact #9: Diagnosing Marfan syndrome requires a multi‐system clinical exam; that means an examination by a heart doctor, a bone doctor and an eye doctor. Genetic testing can sometimes be helpful.

Visit for more information.


Marfact #6

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #6: If Marfan syndrome is suspected, talk to your doctor and seek an evaluation. You can get more information at the Marfan Foundation, or 800‐8‐MARFAN. And remember, Marfan Syndrome can cause serious heart issues, with little or no symptoms until it’s too late. So, if you suspect you may have the disorder; tell someone! It’s always better to be safe than sorry.

Visit for more information.

Have Heart Drawing1.7

Another huge thanks to the wonderful Ben who’s been re-blogging these for Marfan awareness! I highly recommend that you stop by Ben’s blog and have a read, it’ll be well worth it!

Also, thank you so much to Women Who Think Too Much for their reblog of yesterday’s fact. You rock!

Marfact #5 + My heart health.

First off I want to give sincere thanks to the amazing Benjamin Prewitt and Sonda’s MCS Chatter for kindly re-posting Marfacts on their blogs! Thank you both so much for helping spread the word!

In honor of Marfan Syndrome awareness month, here’s today’s Marfact (provided by the wonderful Marfan Foundation).

Marfact #5: The life‐threatening part of Marfan syndrome is it’s effect on the aorta, the large blood vessel that takes blood away from the heart. In affected people, it can enlarge, leading to a tear or rupture. With monitoring and treatment, this does not have to happen!

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I was 17 years old when my cardiologist at BC Children’s Hospital sat my mom and I down and told us that my aorta was starting to enlarge. It was a hard thing to hear. This wasn’t my first echocardiogram; I’d been having them once a year, every year – as recommended – since I was diagnosed, in order to monitor the size of my aorta. Every year everything looked normal, and so that’s what we came to expect. I was never worried in the minutes between having completed the echo and getting the results, not even in the slightest.

Even though that’s a major feature of Marfan Syndrome – enlarged aorta – I always just had this feeling that it wasn’t going to happen to me. And that feeling grew after every normal echo, enough that I kind of felt invincible in regards to my heart and aorta. I felt even safer about it due to the fact that I was more of an atypical case of Marfan Syndrome to begin with. It was a nice feeling too, when so much of the rest of my body was continually breaking down or falling apart *I’m talking to you, eyes!*.

Needless to say that this sit-down conversation with my cardiologist was sufficient in bursting my bubble of aortic invincibility. The news wasn’t devastating so much, considering that overall my heart was still doing really well, but it was another manifestation of my disorder and it’s growing impact on my body and that’s never easy to swallow.

Three years later and though I’ve now been diagnosed with mitral valve prolapse, my aorta is doing really well. It hasn’t grown anymore since that initial change and the current measurements show that it’s still only slightly enlarged. Considering what some people with Marfan Syndrome have been through with their cardiovascular systems I count myself very lucky in that regard.

I don’t think of my annual echos as quite such a non-issue anymore, and every so often I give a worried thought to how things are going to look at my next cardiologist appointment, but mostly I try my best to just take things as they come and not dread or dwell on the “what ifs” of it. Marfan Syndrome can be a pretty terrifying thing if you’re looking at it through the potential worst case scenarios, but then again, life’s like that too. :)